GM1 gangliosidosis, type 1 (infantile GM1-gangliosidosis)

Pathology

• accumulation of beta-linked galactose-terminal oligosaccharides in visceral tissues
• central nervous system degeneration

Genetics

• autosomal recessive
• associated with defects in GLB1

Clinical manifestations

• coarse facial features
• hepatosplenomegaly
• skeletal dysmorphology reminiscent of Hurler syndrome
• infantile form is rapidly progressive leading to death usually between the 1st & 2nd year

Laboratory

• excretion of beta-linked galactose-terminal oligosaccharides in the urine

More general terms

• GM1 gangliosidosis

Database

• OMIM: https://mirror.omim.org/entry/230500